ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.826G>A (p.Ala276Thr)

gnomAD frequency: 0.00002  dbSNP: rs199717731
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664997 SCV000789047 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2016-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091860 SCV001248114 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV000664997 SCV001395668 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 276 of the ACADS protein (p.Ala276Thr). This variant is present in population databases (rs199717731, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of SCAD deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 550290). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADS protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ACADS function (PMID: 18523805). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000664997 SCV002033270 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing

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